Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver.
This can cause many different symptoms. Your spleen and liver may get very large and stop working normally. The disease can also affect your lungs, brain, eyes, and bones.
There are 3 types of Gaucher disease:
Gaucher disease is passed down from parents to children (is inherited). It is caused by a problem with the GBA gene.
It is an autosomal recessive disorder. This means that each parent must pass along an abnormal GBA gene for their child to get Gaucher. Parents may have only 1 GBA gene and, therefore, not show any signs of the disease, but be carriers of the disease. Gaucher disease type 1 is most commonly found among Ashkenazi Jews who have a high number of carriers of the defective GBA gene.
Each person’s symptoms may vary. For many people, symptoms start in childhood. Some people have very mild symptoms.
Symptoms of Gaucher disease can include:
To make a diagnosis, your healthcare provider will look at your overall health and past health. He or she will give you a physical exam.
Your provider will also look at:
Because Gaucher disease has so many different symptoms, it can take time to get an accurate diagnosis.
There is no cure for Gaucher disease. But treatment can help you control your symptoms.
Your treatment will depend on what type of Gaucher disease you have. Treatment may include:
Gaucher disease can cause other health problems such as:
If Gaucher disease runs in your family, talk with a genetic counselor. He or she can help you find out your risk of having the disease. You may also learn your chances of passing on the disease to your children.
Testing the brother or sister of someone with Gaucher disease may help detect the disease early. This can help with treatment.
Call your healthcare provider if you have any of these symptoms:
Call your provider if you have new symptoms, such as joint pain or seizures. Also let your provider know if your treatment is no longer helping to control your original symptoms.
Tips to help you get the most from a visit to your healthcare provider: